regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUTM2G_chr9_96923843_96944416 | 96924986 | C | CTTGCTAC others(40): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 374 | 0.0027 | 47 | c.-40 others(58): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 3856 | chr9 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16761358 | T | TTCTTTCT others(40): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG03209.hp2 |
a0010a0030 | a0010c0013a0030c0043 | a0010c0013t0013a0030c0043t0009 | a0010c0013t0013g0172a0010c0013t0013g0173a0030c0043t0009g0023 | 3 | 300 | 0.0100 | 47 | c.197 others(64): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225448837 | G | GTTTGCTT others(40): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0067 | 1 | 192 | 0.0052 | 47 | c.221 others(66): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225597512 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18951.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0005 | a0001c0001t0001g0102a0001c0019t0005g0169 | 2 | 192 | 0.0104 | 47 | c.161 others(68): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
OBI1_chr13_78609289_78664155 | 78659312 | A | AAAAAAAG others(40): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 296 | 0.0034 | 47 | c.-19 others(56): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 158 | chr13 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCA others(40): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03927.hp2 NA18961.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0260a0001c0001t0006g0261a0001c0001t0006g0262others(4): Show | 7 | 290 | 0.0241 | 47 | c.891 others(64): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ODAD2_chr10_27807168_28004079 | 27885737 | T | TATAATAT others(40): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0274 | 1 | 304 | 0.0033 | 47 | c.261 others(68): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
OLFM3_chr1_101797560_102001926 | 101991016 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 306 | 0.0033 | 47 | c.69+ others(62): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133440762 | T | TTTATATA others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 68 | 0.0147 | 47 | c.61+ others(64): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64094108 | G | GGGGGGCA others(40): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0010 | 1 | 66 | 0.0152 | 47 | c.233 others(64): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64094330 | T | TGTGGGTC others(40): Show |
intron_variant | MODIFIER | NA20905.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0007t0010 | a0001c0001t0010g0036a0001c0007t0010g0052 | 2 | 66 | 0.0303 | 47 | c.233 others(64): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPTN_chr10_13095163_13143308 | 13114814 | T | TTATATAT others(40): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291a0001c0001t0001g0371a0001c0001t0001g0372others(1): Show | 4 | 418 | 0.0096 | 47 | c.553 others(64): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OR10H5_chr19_15782661_15805357 | 15804786 | A | AGGGGGGG others(40): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 396 | 0.0025 | 47 | c.*97 others(58): Show |
OR10H5 | ENSG00000172519.10 | transcript | ENST00000642092.2 | protein_coding | 4430 | chr19 | TogoVar | ||||||
OR13D1_chr9_104689518_104700462 | 104695393 | C | CAGGAATA others(40): Show |
frameshift_variant others(1): Show |
HIGH | HG03704.hp1 | a0014 | a0014c0020 | a0014c0020t0000 | a0014c0020t0000g0000 | 1 | 396 | 0.0025 | 47 | c.877 others(54): Show |
p.His others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 924/945 | 924/945 | 308/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR3A2_chr17_3271177_3391308 | 3367601 | G | GTATATAT others(40): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0294 | 1 | 318 | 0.0031 | 47 | c.-37 others(68): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
OR4M1_chr14_19768504_19788696 | 19775710 | T | TATTTTAA others(40): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0090 | 1 | 276 | 0.0036 | 47 | c.-30 others(64): Show |
OR4M1 | ENSG00000176299.5 | transcript | ENST00000641200.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
OR52M1_chr11_4540191_4551144 | 4541252 | C | CCTTCTGG others(40): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 430 | 0.0023 | 47 | c.-39 others(58): Show |
OR52M1 | ENSG00000197790.1 | transcript | ENST00000360213.1 | protein_coding | 3938 | chr11 | TogoVar | ||||||
OR6C2_chr12_55439076_55458347 | 55446857 | T | TAAAACTC others(40): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 454 | 0.0022 | 47 | c.-88 others(66): Show |
OR6C2 | ENSG00000179695.3 | transcript | ENST00000641202.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
OR6J1_chr14_22625929_22649352 | 22636292 | C | CCCTCTCC others(40): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0312 | 1 | 362 | 0.0028 | 47 | c.-27 others(64): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31769483 | A | AATAAAAA others(40): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0023a0001c0001t0002g0082a0001c0001t0006g0185 | 3 | 186 | 0.0161 | 47 | c.730 others(66): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31965651 | T | TATTATAT others(40): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03831.hp2 |
a0001a0003 | a0001c0002a0003c0017 | a0001c0002t0001a0003c0017t0001 | a0001c0002t0001g0060a0003c0017t0001g0004 | 2 | 186 | 0.0108 | 47 | c.281 others(66): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
OSBPL3_chr7_24791540_24985178 | 24917401 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0115 | 1 | 326 | 0.0031 | 47 | c.-14 others(68): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
OSBPL3_chr7_24791540_24985178 | 24917446 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0004 | 1 | 326 | 0.0031 | 47 | c.-14 others(68): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3131768 | C | CCCATCCA others(40): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0010a0002c0003t0003 | a0001c0001t0004g0152a0001c0002t0010g0168a0002c0003t0003g0167others(1): Show | 4 | 326 | 0.0123 | 47 | c.-21 others(64): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 1/21 | chr11 | TogoVar | ||||||
OSCAR_chr19_54089668_54105803 | 54089940 | G | GTTTTTTT others(40): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0325 | 1 | 443 | 0.0023 | 47 | c.*52 others(58): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4727 | chr19 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31564387 | G | GTTTTTTT others(40): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178a0001c0001t0002g0181 | 2 | 244 | 0.0082 | 47 | c.332 others(64): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38160856 | C | CACGCATT others(40): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 248 | 0.0040 | 47 | c.-50 others(58): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 4680 | chr3 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618232 | A | AAAGAAAG others(40): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG02818.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0009g0001 | 6 | 386 | 0.0155 | 47 | c.-58 others(56): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121130816 | A | AAAAGAAA others(40): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG04228.hp2 |
a0008a0012 | a0008c0007a0012c0013 | a0008c0007t0002a0012c0013t0005 | a0008c0007t0002g0218a0012c0013t0005g0235 | 2 | 366 | 0.0055 | 47 | c.-21 others(58): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2059 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121130843 | A | AGAAAGAA others(40): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0004others(9): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0042others(22): Show | 26 | 366 | 0.0710 | 47 | c.-21 others(58): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2032 | chr12 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1457746 | T | TATCTATC others(40): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG03195.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0003t0003 | a0001c0001t0003g0066a0001c0001t0005g0011a0001c0003t0003g0030others(2): Show | 5 | 114 | 0.0439 | 47 | c.*77 others(58): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 4834 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1508999 | T | TATCTATC others(40): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0011 | a0001c0001t0006g0018a0001c0003t0011g0002 | 2 | 114 | 0.0175 | 47 | c.-25 others(66): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGGAGG others(40): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0032 | a0001c0001t0012g0020a0001c0001t0012g0098a0001c0001t0012g0099others(1): Show | 5 | 426 | 0.0117 | 47 | c.904 others(62): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168499285 | T | TGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01099.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0026a0001c0001t0002g0089a0001c0001t0005g0091others(24): Show | 27 | 156 | 0.1731 | 47 | c.-83 others(64): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02602.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0002a0001c0001t0004a0002c0015t0003 | a0001c0001t0002g0125a0001c0001t0004g0002a0002c0015t0003g0058 | 3 | 156 | 0.0192 | 47 | c.162 others(64): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110076492 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0221a0001c0001t0008g0215 | 2 | 222 | 0.0090 | 47 | c.583 others(66): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 222 | 0.0045 | 47 | c.583 others(62): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0187 | 1 | 222 | 0.0045 | 47 | c.583 others(62): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAATATAT others(40): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0326 | 1 | 416 | 0.0024 | 47 | c.635 others(62): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 372 | 0.0027 | 47 | c.28- others(62): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322763 | A | AGAGAGGG others(40): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 284 | 0.0035 | 47 | c.-27 others(68): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR6_chr1_156238320_156253056 | 156250521 | T | TACTCTTG others(40): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 47 | c.-25 others(58): Show |
PAQR6 | ENSG00000160781.17 | transcript | ENST00000292291.10 | protein_coding | 2466 | chr1 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605988 | A | ATATCTCC others(40): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 100 | 0.0100 | 47 | c.223 others(66): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
PARP8_chr5_50661637_50851519 | 50787884 | A | AACATATA others(40): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0160 | 1 | 328 | 0.0031 | 47 | c.671 others(62): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151562850 | C | CCGGGCGG others(40): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 221 | 0.0045 | 47 | c.-10 others(58): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 824 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562857 | C | CCGGGCGG others(40): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 221 | 0.0045 | 47 | c.-10 others(58): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 817 | chrX | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61886819 | C | CAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03688.hp2 |
a0001a0004 | a0001c0093a0004c0011 | a0001c0093t0004a0004c0011t0001 | a0001c0093t0004g0051a0004c0011t0001g0012 | 2 | 158 | 0.0127 | 47 | c.313 others(66): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATL1_chr11_59631716_59674037 | 59632697 | A | ATATATAT others(40): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 276 | 0.0036 | 47 | c.*56 others(58): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 4018 | chr11 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59632747 | G | GATATATA others(40): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 276 | 0.0036 | 47 | c.*56 others(58): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3968 | chr11 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125780646 | C | CCCCCCAC others(40): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0013others(1): Show | a0001c0002t0003g0142a0001c0002t0004g0118a0001c0002t0004g0135others(31): Show | 34 | 294 | 0.1157 | 47 | c.274 others(66): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |